A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594082



Internal ID6981402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207279577..207282363hg38UCSC Ensembl
Innerchr2:207279579..207282362hg38UCSC Ensembl
Outerchr2:207279576..207282365hg38UCSC Ensembl
chr2:208144301..208147087hg19UCSC Ensembl
Innerchr2:208144303..208147086hg19UCSC Ensembl
Outerchr2:208144300..208147089hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382787
hg192787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10830331, essv10830340, essv10830375, essv10830359, essv10830322, essv10830335, essv10830357, essv10830342, essv10830370, essv10830362, essv10830323, essv10830324, essv10830320, essv10830328, essv10830361, essv10830353, essv10830366, essv10830329, essv10830363, essv10830348, essv10830334, essv10830346, essv10830350, essv10830341, essv10830349, essv10830364, essv10830374, essv10830355, essv10830326, essv10830373, essv10830371, essv10830360, essv10830352, essv10830356, essv10830347, essv10830336, essv10830330, essv10830339, essv10830327, essv10830333, essv10830343, essv10830354, essv10830345, essv10830344, essv10830351, essv10830369, essv10830372, essv10830325, essv10830367, essv10830332, essv10830321, essv10830337, essv10830365, essv10830338, essv10830358, essv10830368
SamplesHG01986, HG03559, HG03121, HG03378, NA19466, NA20274, NA18877, HG03521, HG03297, HG02888, NA19098, HG03074, HG03436, NA19379, NA18916, HG02645, NA18874, NA19238, NA20412, HG03225, NA18864, HG03267, HG03058, HG03394, NA18867, HG03169, HG02479, HG03343, HG02943, NA19908, HG02887, HG02014, HG02470, HG03311, HG02429, HG03476, HG03202, HG03388, NA18912, HG02884, HG03024, HG02666, HG02585, HG02256, HG02896, NA19309, NA19256, NA18517, NA19473, NA19143, HG03442, NA19713, HG03060, HG03077, NA18488, HG03376
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594082
Frequency
Sample Size2504
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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